Incidental Mutation 'R4684:Helz'
| ID |
353541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helz
|
| Ensembl Gene |
ENSMUSG00000020721 |
| Gene Name |
helicase with zinc finger domain |
| Synonyms |
3110078M01Rik, 9430093I07Rik, 9630002H22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
107438756-107584652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107539971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 315
(V315A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075012]
[ENSMUST00000100305]
[ENSMUST00000106746]
[ENSMUST00000133862]
|
| AlphaFold |
Q6DFV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075012
AA Change: V997A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: V997A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ihga1
|
6 |
84 |
5e-3 |
SMART |
|
low complexity region
|
129 |
146 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
178 |
205 |
2.61e-4 |
SMART |
|
Pfam:ResIII
|
639 |
807 |
6.7e-8 |
PFAM |
|
Pfam:AAA_11
|
641 |
768 |
2.3e-14 |
PFAM |
|
Pfam:AAA_30
|
641 |
838 |
2.6e-11 |
PFAM |
|
Pfam:AAA_19
|
648 |
729 |
5.5e-11 |
PFAM |
|
Pfam:AAA_11
|
758 |
834 |
3.8e-18 |
PFAM |
|
Pfam:AAA_12
|
841 |
1053 |
7.4e-38 |
PFAM |
|
low complexity region
|
1165 |
1176 |
N/A |
INTRINSIC |
|
low complexity region
|
1360 |
1448 |
N/A |
INTRINSIC |
|
low complexity region
|
1466 |
1487 |
N/A |
INTRINSIC |
|
low complexity region
|
1557 |
1568 |
N/A |
INTRINSIC |
|
low complexity region
|
1631 |
1647 |
N/A |
INTRINSIC |
|
low complexity region
|
1716 |
1736 |
N/A |
INTRINSIC |
|
low complexity region
|
1926 |
1933 |
N/A |
INTRINSIC |
|
low complexity region
|
1942 |
1957 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100305
AA Change: V996A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: V996A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ihga1
|
6 |
84 |
5e-3 |
SMART |
|
low complexity region
|
129 |
146 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
178 |
205 |
2.61e-4 |
SMART |
|
Pfam:AAA_11
|
641 |
833 |
2.7e-31 |
PFAM |
|
Pfam:AAA_30
|
641 |
837 |
1.7e-10 |
PFAM |
|
Pfam:AAA_19
|
648 |
727 |
6.3e-9 |
PFAM |
|
Pfam:AAA_12
|
840 |
1052 |
3.4e-36 |
PFAM |
|
low complexity region
|
1164 |
1175 |
N/A |
INTRINSIC |
|
low complexity region
|
1359 |
1447 |
N/A |
INTRINSIC |
|
low complexity region
|
1465 |
1486 |
N/A |
INTRINSIC |
|
low complexity region
|
1556 |
1567 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106746
AA Change: V996A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: V996A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ihga1
|
6 |
84 |
5e-3 |
SMART |
|
low complexity region
|
129 |
146 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
178 |
205 |
2.61e-4 |
SMART |
|
Pfam:AAA_11
|
641 |
833 |
1e-31 |
PFAM |
|
Pfam:AAA_30
|
641 |
837 |
8.3e-11 |
PFAM |
|
Pfam:AAA_19
|
648 |
727 |
2.2e-9 |
PFAM |
|
Pfam:AAA_12
|
840 |
1052 |
1.7e-36 |
PFAM |
|
low complexity region
|
1164 |
1175 |
N/A |
INTRINSIC |
|
low complexity region
|
1359 |
1447 |
N/A |
INTRINSIC |
|
low complexity region
|
1465 |
1486 |
N/A |
INTRINSIC |
|
low complexity region
|
1556 |
1567 |
N/A |
INTRINSIC |
|
low complexity region
|
1630 |
1646 |
N/A |
INTRINSIC |
|
low complexity region
|
1715 |
1735 |
N/A |
INTRINSIC |
|
low complexity region
|
1925 |
1932 |
N/A |
INTRINSIC |
|
low complexity region
|
1941 |
1956 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133862
AA Change: V315A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721
AA Change: V315A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_11
|
68 |
152 |
2.1e-19 |
PFAM |
|
Pfam:AAA_12
|
159 |
371 |
1.5e-36 |
PFAM |
|
low complexity region
|
483 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
766 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
805 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
886 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143634
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele are viable, fertile and phenotypically normal with no apparent skeletal defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310039H08Rik |
T |
C |
17: 47,083,872 (GRCm39) |
V45A |
probably benign |
Het |
| 4921509C19Rik |
A |
G |
2: 151,313,791 (GRCm39) |
I629T |
unknown |
Het |
| 4933402N03Rik |
T |
C |
7: 130,740,413 (GRCm39) |
R268G |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,384,193 (GRCm39) |
R3882* |
probably null |
Het |
| Adamts3 |
T |
G |
5: 89,850,866 (GRCm39) |
T558P |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,767,304 (GRCm39) |
N214S |
probably benign |
Het |
| Arhgef4 |
A |
T |
1: 34,850,866 (GRCm39) |
|
probably null |
Het |
| Boc |
C |
T |
16: 44,320,743 (GRCm39) |
A306T |
probably benign |
Het |
| Capn10 |
T |
C |
1: 92,871,503 (GRCm39) |
F367S |
probably damaging |
Het |
| Ccdc6 |
T |
C |
10: 70,025,086 (GRCm39) |
|
probably benign |
Het |
| Cobll1 |
G |
T |
2: 64,929,372 (GRCm39) |
S688R |
possibly damaging |
Het |
| Cpxm2 |
G |
T |
7: 131,650,767 (GRCm39) |
P631Q |
possibly damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,687,779 (GRCm39) |
V406A |
possibly damaging |
Het |
| Cyp4a30b |
T |
A |
4: 115,312,200 (GRCm39) |
Y118N |
probably damaging |
Het |
| Dgki |
A |
T |
6: 37,276,781 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,623,237 (GRCm39) |
N1323S |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,326,138 (GRCm39) |
Y42* |
probably null |
Het |
| Eps8l1 |
C |
A |
7: 4,476,944 (GRCm39) |
P471Q |
probably damaging |
Het |
| Fam20a |
A |
C |
11: 109,612,513 (GRCm39) |
L10R |
unknown |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,446 (GRCm39) |
I151K |
probably damaging |
Het |
| Gga1 |
C |
A |
15: 78,769,509 (GRCm39) |
P161T |
probably damaging |
Het |
| Gm9923 |
T |
A |
10: 72,145,306 (GRCm39) |
Y52* |
probably null |
Het |
| Gucy2g |
A |
G |
19: 55,194,688 (GRCm39) |
F910L |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,750 (GRCm39) |
H241Q |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,716,629 (GRCm39) |
Y301C |
probably damaging |
Het |
| Htt |
C |
T |
5: 35,010,109 (GRCm39) |
P1521S |
probably damaging |
Het |
| Iah1 |
T |
C |
12: 21,366,434 (GRCm39) |
M1T |
probably null |
Het |
| Ik |
T |
C |
18: 36,885,467 (GRCm39) |
S287P |
probably damaging |
Het |
| Itga1 |
T |
A |
13: 115,185,906 (GRCm39) |
D32V |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| Klk14 |
A |
G |
7: 43,341,392 (GRCm39) |
I15V |
probably benign |
Het |
| Kng2 |
T |
C |
16: 22,806,391 (GRCm39) |
I603V |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,080,773 (GRCm39) |
I1267T |
possibly damaging |
Het |
| Lrp1b |
A |
C |
2: 40,812,316 (GRCm39) |
L2430V |
probably benign |
Het |
| Lrrn3 |
T |
G |
12: 41,504,243 (GRCm39) |
K25Q |
possibly damaging |
Het |
| Lta4h |
T |
A |
10: 93,304,678 (GRCm39) |
N233K |
probably benign |
Het |
| Mapk13 |
T |
C |
17: 28,989,023 (GRCm39) |
I53T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,666,430 (GRCm39) |
F123L |
probably damaging |
Het |
| Myh4 |
G |
C |
11: 67,136,637 (GRCm39) |
D472H |
probably damaging |
Het |
| Nipa2 |
A |
T |
7: 55,585,574 (GRCm39) |
N121K |
probably benign |
Het |
| Nostrin |
C |
T |
2: 69,014,268 (GRCm39) |
T408M |
probably benign |
Het |
| Oosp2 |
C |
T |
19: 11,627,017 (GRCm39) |
R102H |
probably damaging |
Het |
| Or1j18 |
A |
G |
2: 36,624,686 (GRCm39) |
M118V |
probably damaging |
Het |
| Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
| Osgin2 |
T |
A |
4: 16,001,946 (GRCm39) |
I202L |
probably benign |
Het |
| Pbld2 |
C |
A |
10: 62,893,476 (GRCm39) |
R271S |
probably damaging |
Het |
| Pex6 |
C |
T |
17: 47,023,027 (GRCm39) |
T201I |
probably benign |
Het |
| Pilra |
T |
C |
5: 137,833,777 (GRCm39) |
I96M |
probably damaging |
Het |
| Pllp |
T |
A |
8: 95,403,906 (GRCm39) |
D47V |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,444,902 (GRCm39) |
S765G |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,852,434 (GRCm39) |
Y100N |
probably damaging |
Het |
| Prkg1 |
T |
A |
19: 31,641,579 (GRCm39) |
K35* |
probably null |
Het |
| Psmc2 |
A |
G |
5: 22,008,263 (GRCm39) |
D389G |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,331,951 (GRCm39) |
T2387A |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,005,192 (GRCm39) |
N914S |
probably damaging |
Het |
| Ruvbl1 |
C |
A |
6: 88,468,581 (GRCm39) |
T367K |
probably benign |
Het |
| Scube2 |
C |
T |
7: 109,409,920 (GRCm39) |
R525H |
probably damaging |
Het |
| Sec14l4 |
T |
C |
11: 3,985,200 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
T |
C |
2: 125,587,862 (GRCm39) |
D751G |
probably damaging |
Het |
| Setd3 |
T |
C |
12: 108,074,949 (GRCm39) |
D402G |
probably benign |
Het |
| Slc15a2 |
T |
A |
16: 36,578,211 (GRCm39) |
K359N |
probably damaging |
Het |
| Slc25a21 |
A |
G |
12: 57,243,721 (GRCm39) |
S2P |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,908,332 (GRCm39) |
H70Q |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,647,576 (GRCm39) |
I944V |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,895,557 (GRCm39) |
F1887S |
probably damaging |
Het |
| Sptbn4 |
A |
T |
7: 27,066,160 (GRCm39) |
D649E |
possibly damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,063,844 (GRCm39) |
E879G |
probably damaging |
Het |
| Stx5a |
C |
A |
19: 8,720,725 (GRCm39) |
R121S |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,384,597 (GRCm39) |
L26P |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,144,255 (GRCm39) |
D649G |
probably benign |
Het |
| Tfam |
A |
G |
10: 71,073,677 (GRCm39) |
S32P |
probably benign |
Het |
| Tmt1b |
G |
T |
10: 128,796,571 (GRCm39) |
C79* |
probably null |
Het |
| Trmt44 |
C |
T |
5: 35,715,387 (GRCm39) |
R642H |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,965,145 (GRCm39) |
A1547T |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,044,003 (GRCm39) |
V519A |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,217,088 (GRCm39) |
F1107L |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,794,919 (GRCm39) |
V677E |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,643,307 (GRCm39) |
L605* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,620,984 (GRCm39) |
D229G |
probably damaging |
Het |
| Uty |
A |
T |
Y: 1,176,502 (GRCm39) |
L178* |
probably null |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,791 (GRCm39) |
D168V |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,646,324 (GRCm39) |
V1476A |
probably damaging |
Het |
| Vps13b |
C |
A |
15: 35,879,967 (GRCm39) |
T3014K |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,841,487 (GRCm39) |
H2506Y |
probably benign |
Het |
| Vps37c |
T |
C |
19: 10,690,132 (GRCm39) |
V198A |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,259,290 (GRCm39) |
Y1621H |
probably benign |
Het |
| Zfp251 |
T |
C |
15: 76,738,607 (GRCm39) |
D162G |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,078 (GRCm39) |
T1994A |
probably benign |
Het |
| Zfp791 |
A |
G |
8: 85,837,559 (GRCm39) |
Y102H |
probably benign |
Het |
|
| Other mutations in Helz |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Helz
|
APN |
11 |
107,554,479 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01419:Helz
|
APN |
11 |
107,577,340 (GRCm39) |
missense |
unknown |
|
|
IGL01864:Helz
|
APN |
11 |
107,493,180 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01999:Helz
|
APN |
11 |
107,493,754 (GRCm39) |
splice site |
probably benign |
|
|
IGL02938:Helz
|
APN |
11 |
107,577,264 (GRCm39) |
missense |
unknown |
|
|
IGL03157:Helz
|
APN |
11 |
107,468,714 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03374:Helz
|
APN |
11 |
107,510,973 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0058:Helz
|
UTSW |
11 |
107,563,384 (GRCm39) |
unclassified |
probably benign |
|
|
R0058:Helz
|
UTSW |
11 |
107,563,384 (GRCm39) |
unclassified |
probably benign |
|
|
R0112:Helz
|
UTSW |
11 |
107,563,774 (GRCm39) |
unclassified |
probably benign |
|
|
R0243:Helz
|
UTSW |
11 |
107,528,740 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0328:Helz
|
UTSW |
11 |
107,495,174 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0578:Helz
|
UTSW |
11 |
107,577,226 (GRCm39) |
missense |
unknown |
|
|
R0928:Helz
|
UTSW |
11 |
107,517,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1428:Helz
|
UTSW |
11 |
107,483,666 (GRCm39) |
splice site |
probably benign |
|
|
R1493:Helz
|
UTSW |
11 |
107,504,751 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1494:Helz
|
UTSW |
11 |
107,494,889 (GRCm39) |
splice site |
probably benign |
|
|
R1541:Helz
|
UTSW |
11 |
107,560,874 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1619:Helz
|
UTSW |
11 |
107,527,105 (GRCm39) |
nonsense |
probably null |
|
|
R1809:Helz
|
UTSW |
11 |
107,489,997 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1942:Helz
|
UTSW |
11 |
107,493,318 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2095:Helz
|
UTSW |
11 |
107,536,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Helz
|
UTSW |
11 |
107,561,310 (GRCm39) |
missense |
unknown |
|
|
R2167:Helz
|
UTSW |
11 |
107,563,790 (GRCm39) |
unclassified |
probably benign |
|
|
R2406:Helz
|
UTSW |
11 |
107,577,378 (GRCm39) |
missense |
unknown |
|
|
R2571:Helz
|
UTSW |
11 |
107,504,778 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2858:Helz
|
UTSW |
11 |
107,563,753 (GRCm39) |
unclassified |
probably benign |
|
|
R3927:Helz
|
UTSW |
11 |
107,576,118 (GRCm39) |
missense |
unknown |
|
|
R4449:Helz
|
UTSW |
11 |
107,494,989 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4453:Helz
|
UTSW |
11 |
107,563,455 (GRCm39) |
nonsense |
probably null |
|
|
R4583:Helz
|
UTSW |
11 |
107,536,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Helz
|
UTSW |
11 |
107,517,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4875:Helz
|
UTSW |
11 |
107,528,560 (GRCm39) |
intron |
probably benign |
|
|
R4924:Helz
|
UTSW |
11 |
107,493,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Helz
|
UTSW |
11 |
107,510,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5078:Helz
|
UTSW |
11 |
107,546,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5446:Helz
|
UTSW |
11 |
107,523,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5535:Helz
|
UTSW |
11 |
107,536,946 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5650:Helz
|
UTSW |
11 |
107,485,972 (GRCm39) |
missense |
probably null |
0.96 |
|
R5714:Helz
|
UTSW |
11 |
107,517,347 (GRCm39) |
splice site |
probably null |
|
|
R5784:Helz
|
UTSW |
11 |
107,561,307 (GRCm39) |
missense |
unknown |
|
|
R5998:Helz
|
UTSW |
11 |
107,576,360 (GRCm39) |
nonsense |
probably null |
|
|
R6042:Helz
|
UTSW |
11 |
107,504,946 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6089:Helz
|
UTSW |
11 |
107,485,963 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6137:Helz
|
UTSW |
11 |
107,509,886 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6373:Helz
|
UTSW |
11 |
107,486,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6392:Helz
|
UTSW |
11 |
107,493,167 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6618:Helz
|
UTSW |
11 |
107,489,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6644:Helz
|
UTSW |
11 |
107,523,087 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6811:Helz
|
UTSW |
11 |
107,510,144 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6874:Helz
|
UTSW |
11 |
107,554,460 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6911:Helz
|
UTSW |
11 |
107,510,051 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7039:Helz
|
UTSW |
11 |
107,510,144 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7061:Helz
|
UTSW |
11 |
107,540,003 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7438:Helz
|
UTSW |
11 |
107,552,856 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7464:Helz
|
UTSW |
11 |
107,527,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Helz
|
UTSW |
11 |
107,546,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7559:Helz
|
UTSW |
11 |
107,491,104 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7734:Helz
|
UTSW |
11 |
107,576,248 (GRCm39) |
missense |
unknown |
|
|
R7780:Helz
|
UTSW |
11 |
107,528,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7982:Helz
|
UTSW |
11 |
107,517,456 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8024:Helz
|
UTSW |
11 |
107,577,247 (GRCm39) |
missense |
unknown |
|
|
R8181:Helz
|
UTSW |
11 |
107,563,399 (GRCm39) |
missense |
unknown |
|
|
R8346:Helz
|
UTSW |
11 |
107,563,399 (GRCm39) |
missense |
unknown |
|
|
R8729:Helz
|
UTSW |
11 |
107,528,754 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8807:Helz
|
UTSW |
11 |
107,493,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:Helz
|
UTSW |
11 |
107,525,919 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8891:Helz
|
UTSW |
11 |
107,552,842 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8909:Helz
|
UTSW |
11 |
107,556,834 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8922:Helz
|
UTSW |
11 |
107,539,985 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8926:Helz
|
UTSW |
11 |
107,563,509 (GRCm39) |
missense |
unknown |
|
|
R8988:Helz
|
UTSW |
11 |
107,495,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9053:Helz
|
UTSW |
11 |
107,563,761 (GRCm39) |
missense |
unknown |
|
|
R9056:Helz
|
UTSW |
11 |
107,547,019 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9099:Helz
|
UTSW |
11 |
107,523,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9122:Helz
|
UTSW |
11 |
107,556,830 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9194:Helz
|
UTSW |
11 |
107,561,113 (GRCm39) |
nonsense |
probably null |
|
|
R9220:Helz
|
UTSW |
11 |
107,560,873 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9223:Helz
|
UTSW |
11 |
107,509,918 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9242:Helz
|
UTSW |
11 |
107,523,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Helz
|
UTSW |
11 |
107,563,687 (GRCm39) |
missense |
unknown |
|
|
R9761:Helz
|
UTSW |
11 |
107,560,874 (GRCm39) |
nonsense |
probably null |
|
|
X0065:Helz
|
UTSW |
11 |
107,561,273 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCTGCATGTGGTTAGGATC -3'
(R):5'- ATTCACTGTGTGATGGTACAGAC -3'
Sequencing Primer
(F):5'- AGGATCTCTGGTGTCTCCAC -3'
(R):5'- AGATTCTCTCAGTTCAGTGACACAC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation